Term info
database cross reference
- Orphanet:171860 (MONDO:equivalentTo)
- UMLS:CN226733 (MONDO:equivalentTo)
Subsets
ordo_disease
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/5588
definition
This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.
exactMatch
http://linkedlifedata.com/resource/umls/id/CN226733, http://purl.obolibrary.org/obo/Orphanet_171860
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0000508
id
MONDO:0015752